Publications:

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MYOC: D380H

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GLC1A: D380H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Experimental Eye Research

Stothert, Andrew R AR; Fontaine, Sarah N SN; Sabbagh, Jonathan J JJ; Dickey, Chad A CA

Publication Date: 2016-03

Variant appearance in text: MYOC: D380H

PubMed Link: 26302411

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYOC: D380H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.

Journal Of Ocular Pharmacology And Therapeutics : The Official Journal Of The Association For Ocular Pharmacology And Therapeutics

Borrás, Teresa T

Publication Date: 2014

Variant appearance in text: MYOC: D380H

PubMed Link: 24564495

Variant Present in the following documents:

• Main text

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Cystatin a, a potential common link for mutant myocilin causative glaucoma.

Plos One

Kennedy, K David KD; AnithaChristy, S A SA; Buie, Lakisha K LK; Borrás, Teresa T

Publication Date: 2012

Variant appearance in text: MYOC: D380H

PubMed Link: 22615763

Variant Present in the following documents:

• Main text
• pone.0036301.pdf

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Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Molecular Vision

Zhao, Xin X; Yang, Chaoshan C; Tong, Yi Y; Zhang, Xiaohui X; Xu, Liang L; Li, Yang Y

Publication Date: 2010-08-25

Variant appearance in text: MYOC: D380H

PubMed Link: 20806035

Variant Present in the following documents:

• Main text
• mv-v16-1728.pdf

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The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.

Molecular Vision

Avisar, Inbal I; Lusky, Moshe M; Robinson, Anat A; Shohat, Mordechai M; Dubois, Stéphane S; Raymond, Vincent V; Gaton, Dan D DD

Publication Date: 2009-09-24

Variant appearance in text: MYOC: Asp380His

PubMed Link: 19784393

Variant Present in the following documents:

• Main text

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Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.

Molecular Vision

Wirtz, Mary K MK; Konstas, Anastasios G P AG; Samples, John R JR; Kaltsos, Kostantinos K; Economou, Athanasios A; Dimopoulos, Antonios A; Georgiadou, Irene I; Petersen, Michael B MB

Publication Date: 2008-04-25

Variant appearance in text: MYOC: Asp380His

PubMed Link: 18449353

Variant Present in the following documents:

• mv-v14-774.pdf

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Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

American Journal Of Ophthalmology

Wirtz, Mary K MK; Samples, John R JR; Choi, Dongseok D; Gaudette, N Donna ND

Publication Date: 2007-07

Variant appearance in text: MYOC: D380H

PubMed Link: 17499207

Variant Present in the following documents:

• Main text

View BVdb publication page

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